One of the most successful applications of pharmacogenetics research is the genetic screening for HLA-B*57:01, strongly associated with an increased risk to develop hypersensitivity reaction in HIV-positive patients following abacavir administration. Taking into consideration the limits of current genotyping methodologies, we have developed and validated (150 buccal swabs) an inexpensive pharmacogenetic approach for HLA-B*57:01 typing. In our assay DNA extraction and amplification are combined in one single step (direct PCR protocol), which is performed directly on the biological sample without the need of extraction and sequencing passages. The amplicons obtained by direct PCR can be easily separated on the agarose gel under ultraviolet. As per our results, the direct PCR represents a good alternative to the traditional methods of HLA-B*57:01 pharmacogenetic test, especially for those laboratories or countries where currently available approaches are often not available or not affordable. Furthermore it is an innovative approach, promoting a personalized, safer and cost-effective therapy

Cascella, R., Strafella, C., Ragazzo, M., Zampatti, S., Borgiani, P., Gambardella, S., et al. (2015). Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01. PHARMACOGENOMICS JOURNAL [10.1038/tpj.2014.48].

Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01

CASCELLA, RAFFAELLA;ZAMPATTI, STEFANIA;BORGIANI, PAOLA;GAMBARDELLA, STEFANO;NOVELLI, GIUSEPPE;GIARDINA, EMILIANO
2015-01-01

Abstract

One of the most successful applications of pharmacogenetics research is the genetic screening for HLA-B*57:01, strongly associated with an increased risk to develop hypersensitivity reaction in HIV-positive patients following abacavir administration. Taking into consideration the limits of current genotyping methodologies, we have developed and validated (150 buccal swabs) an inexpensive pharmacogenetic approach for HLA-B*57:01 typing. In our assay DNA extraction and amplification are combined in one single step (direct PCR protocol), which is performed directly on the biological sample without the need of extraction and sequencing passages. The amplicons obtained by direct PCR can be easily separated on the agarose gel under ultraviolet. As per our results, the direct PCR represents a good alternative to the traditional methods of HLA-B*57:01 pharmacogenetic test, especially for those laboratories or countries where currently available approaches are often not available or not affordable. Furthermore it is an innovative approach, promoting a personalized, safer and cost-effective therapy
2015
Pubblicato
Rilevanza internazionale
Articolo
Esperti non anonimi
Settore MED/03 - GENETICA MEDICA
Settore BIO/14 - FARMACOLOGIA
English
Con Impact Factor ISI
Cascella, R., Strafella, C., Ragazzo, M., Zampatti, S., Borgiani, P., Gambardella, S., et al. (2015). Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01. PHARMACOGENOMICS JOURNAL [10.1038/tpj.2014.48].
Cascella, R; Strafella, C; Ragazzo, M; Zampatti, S; Borgiani, P; Gambardella, S; Pirazzoli, A; Novelli, G; Giardina, E
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/98049
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